myelodysplastic syndrome
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2022 ◽  
Author(s):  
Alaa Ali ◽  
Batool Yassin ◽  
Ali Almothaffar

Background: Studies demonstrated that there are several germline mutations that lead to a familial predisposition for acute myeloid leukemia and Myelodysplastic syndrome. According to the American Society of Clinical Oncology, the minimum cancer family history was defined as including first- and second-degree family history, type of primary cancer, and age at diagnosis. The current study aimed to estimate the frequency of positive family history for hematologic and solid malignancies in patients with Myeloid Neoplasms / Aplastic anemia. Patients and Methods: A cross-section study was carried out at the Center of Blood Diseases, Medical City Campus during the period from March-December 2020. A purposeful sample of all adult patients with Myeloid Neoplasms [Acute Myeloid Leukemia, Myelodysplastic Syndrome, Chronic Myeloid Leukemia, and Aplastic Anemia] was included in the study. A data collection form was prepared, based on the Hereditary Hematopoietic Malignancies Screening form adopted by the University of Chicago, and modified by the researchers; The data were collected by direct interview with the patients. Patients with hematologic malignancy and one or more first-degree relatives, or ≥2 second-degree relatives, with hematologic malignancies and individuals with Myelodysplastic Syndrome or Acute Myeloid Leukemia and two first or second-degree relatives with a diagnosis of solid tumor malignancy, were considered potential carriers of such genetic predisposition. Results: A total of 153 patients were included; males were nearly equal to females with a male to female ratio of nearly 1:1. Acute Myeloid Leukemia was found in 57.5%, Aplastic Anemia was found in 19%, Chronic Myeloid Leukemia in 17% and only four patients (6.5%) were known cases of Myelodysplastic Syndrome. Nine patients (5.9%) reported a family history of hematological malignancies, 29 (19.0%) reported a family history of solid malignancies and only one patient reported a family history of both hematological and solid malignancies. Regarding the official medical reports of the patients, no patient had been interviewed properly about this crucial point. Conclusion: Positive family history for hematological and solid malignancies in Iraqi patients with myeloid neoplasms is prevalent. Our current approach to this critical issue in Iraq needs to be re-considered.


PLoS ONE ◽  
2022 ◽  
Vol 17 (1) ◽  
pp. e0262484
Author(s):  
Klara Pecankova ◽  
Pavla Pecherkova ◽  
Zdenka Gasova ◽  
Zofie Sovova ◽  
Tomas Riedel ◽  
...  

Background Extracellular vesicles are released into body fluids from the majority of, if not all, cell types. Because their secretion and specific cargo (e.g., proteins) varies according to pathology, extracellular vesicles may prove a rich source of biomarkers. However, their biological and pathophysiological functions are poorly understood in hematological malignancies. Objective Here, we investigated proteome changes in the exosome-rich fraction of the plasma of myelodysplastic syndrome patients and healthy donors. Methods Exosome-rich fraction of the plasma was isolated using ExoQuick™: proteomes were compared and statistically processed; proteins were identified by nanoLC-MS/MS and verified using the ExoCarta and QuickGO databases. Mann-Whitney and Spearman analyses were used to statistically analyze the data. 2D western blot was used to monitor clusterin proteoforms. Results Statistical analyses of the data highlighted clusterin alterations as the most significant. 2D western blot showed that the clusterin changes were caused by posttranslational modifications. Moreover, there was a notable increase in the clusterin proteoform in the exosome-rich fraction of plasma of patients with more severe myelodysplastic syndrome; this corresponded with a simultaneous decrease in their plasma. Conclusions This specific clusterin proteoform seems to be a promising biomarker for myelodysplastic syndrome progression.


2022 ◽  
Vol 13 (1) ◽  
pp. em00784
Author(s):  
Kazunari Anzai ◽  
Masashi Ohe ◽  
Haruki Shida ◽  
Ken Furuya ◽  
Katsuhisa Kogawa

BMC Cancer ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Jun Kong ◽  
Meng-Ge Gao ◽  
Ya-Zhen Qin ◽  
Yu Wang ◽  
Chen-Hua Yan ◽  
...  

Abstract Background The mixed-lineage leukemia (MLL) gene is located on chromosome 11q23. The MLL gene can be rearranged to generate partial tandem duplications (MLL-PTD), which occurs in about 5-10% of acute myeloid leukemia (AML) with a normal karyotype and in 5-6% of myelodysplastic syndrome (MDS) patients. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is currently one of the curative therapies available for AML and MDS with excess blasts (MDS-EB). However, how the prognosis of patients with high levels of MLL-PTD after allo-HSCT, and whether MLL-PTD could be used as a reliable indicator for minimal residual disease (MRD) monitoring in transplant patients remains unknown. Our study purposed to analyze the dynamic changes of MLL-PTD peri-transplantation and the best threshold for predicting relapse after transplantation. Methods We retrospectively collected the clinical data of 48 patients with MLL-PTD AML or MDS-EB who underwent allo-HSCT in Peking University People’s Hospital. The MLL-PTD was examined by real-time quantitative polymerase chain reaction (RQ-PCR) at the diagnosis, before transplantation and the fixed time points after transplantation. Detectable MLL-PTD/ABL > 0.08% was defined as MLL-PTD positive in this study. Results The 48 patients included 33 AML patients and 15 MDS-EB patients. The median follow-up time was 26(0.7-56) months after HSCT. In AML patients, 7 patients (21.2%) died of treatment-related mortality (TRM), 6 patients (18.2%) underwent hematological relapse and died ultimately. Of the 15 patients with MDS-EB, 2 patients (13.3%) died of infection. The 3-year cumulative incidence of relapse (CIR), overall survival (OS), disease-free survival (DFS) and TRM were 13.7 ± 5.2, 67.8 ± 6.9, 68.1 ± 6.8 and 20.3% ± 6.1%, respectively. ROC curve showed that post-transplant MLL-PTD ≥ 1.0% was the optimal cut-off value for predicting hematological relapse after allo-HSCT. There was statistical difference between post-transplant MLL-PTD ≥ 1.0% and MLL-PTD < 1.0% groups (3-year CIR: 75% ± 15.3% vs. 0%, P < 0.001; 3-year OS: 25.0 ± 15.3% vs. 80.7% ± 6.6%, P < 0.001; 3-year DFS: 25.0 ± 15.3% vs. 80.7 ± 6.6%, P < 0.001; 3-year TRM: 0 vs. 19.3 ± 6.6%, P = 0.277). However, whether MLL-PTD ≥ 1% or MLL-PTD < 1% before transplantation has no significant difference on the prognosis. Conclusions Our study indicated that MLL-PTD had a certain stability and could effectively reflect the change of tumor burden. The expression level of MLL-PTD after transplantation can serve as an effective indicator for predicting relapse.


2021 ◽  
Vol 17 (1) ◽  
pp. 264-270
Author(s):  
Emanuela Morelli ◽  
Olga Mulas ◽  
Giovanni Caocci

Introduction: An effective communication is an integral part of the patient-physician relationship. Lack of a healthy patient-physician relationship leads to a lower level of patient satisfaction, scarce understanding of interventions and poor adherence to treatment regimes. Patients need to be involved in the therapeutic process and the assessment of risks and perspectives of the illness in order to better evaluate their options. Physicians, in turn, must convey and communicate information clearly in order to avoid misunderstandings and consequently poor medical care. The patient-physician relationship in cancer care is extremely delicate due to the complexity of the disease. In cancer diagnosis, the physician must adopt a communicative approach that considers the psychosocial factors, needs and patient’s preferences for information,which in turn all contribute to affect clinical outcomes. Search Strategy and Methods : This review was conducted using the Preferred Reporting Items for Systematic and Meta-analyses (PRISMA) statement. We included studies on the importance of physician-patient communication in Acute Myeloid Leukaemia and Myelodysplastic Syndrome care. We searched PubMed, Web of Sciences, Scopus, Google scholar for studies published from December 1 st , 2020 up to March 1 st , 2021. Using MeSH headings, we search for the terms “Physician and patient communication AND Acute Myeloid leukemia” or “Myelodysplastic syndrome” or “Doctor” or “Clinician”, as well as variations thereof . Purpose of the Review : This review examines the progress in communication research between patient and physician and focuses on the impact of communication styles on patient-physician relationshipin hematologic cancers, including Acute Myeloid Leukaemia and Myelodysplastic Syndromes.


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